Incidental Mutation 'R0299:Zfp821'
ID 24792
Institutional Source Beutler Lab
Gene Symbol Zfp821
Ensembl Gene ENSMUSG00000031728
Gene Name zinc finger protein 821
Synonyms 4930566A11Rik
MMRRC Submission 038513-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.528) question?
Stock # R0299 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 110432178-110451564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 110450862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 285 (R285L)
Ref Sequence ENSEMBL: ENSMUSP00000148292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034163] [ENSMUST00000093162] [ENSMUST00000212000] [ENSMUST00000212192] [ENSMUST00000212605] [ENSMUST00000212964]
AlphaFold Q6PD05
Predicted Effect probably damaging
Transcript: ENSMUST00000034163
AA Change: R285L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034163
Gene: ENSMUSG00000031728
AA Change: R285L

DomainStartEndE-ValueType
low complexity region 50 69 N/A INTRINSIC
low complexity region 76 89 N/A INTRINSIC
ZnF_C2H2 119 141 3.78e-1 SMART
ZnF_C2H2 151 173 7.26e-3 SMART
coiled coil region 260 334 N/A INTRINSIC
low complexity region 342 359 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093162
SMART Domains Protein: ENSMUSP00000090850
Gene: ENSMUSG00000069895

DomainStartEndE-ValueType
low complexity region 155 163 N/A INTRINSIC
low complexity region 182 197 N/A INTRINSIC
Pfam:AXH 467 580 3.1e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212000
AA Change: R285L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000212192
AA Change: R285L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212233
Predicted Effect probably benign
Transcript: ENSMUST00000212605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212894
Predicted Effect probably damaging
Transcript: ENSMUST00000212964
AA Change: R134L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.1945 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.3%
  • 20x: 90.1%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two C2H2 zinc finger motifs and a score-and-three (23)-amino acid peptide repeat (STPR) domain. The STPR domain of the encoded protein binds to double stranded DNA and may also contain a nuclear localization signal, suggesting that this protein interacts with chromosomal DNA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
4933427I04Rik A T 4: 123,754,615 (GRCm39) R176S possibly damaging Het
A2ml1 T G 6: 128,530,195 (GRCm39) probably benign Het
Abca13 G A 11: 9,248,076 (GRCm39) E2608K probably benign Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adcy8 T A 15: 64,588,015 (GRCm39) D894V probably damaging Het
Ap4b1 T C 3: 103,717,262 (GRCm39) M1T probably null Het
Arg2 A G 12: 79,194,386 (GRCm39) D70G probably damaging Het
Atxn1 A G 13: 45,720,645 (GRCm39) S417P probably damaging Het
Btbd10 A T 7: 112,929,085 (GRCm39) S230T possibly damaging Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Clec2h T C 6: 128,647,858 (GRCm39) V69A probably damaging Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Col16a1 TCCCC TCCC 4: 129,952,111 (GRCm39) probably null Het
Degs1 A T 1: 182,106,836 (GRCm39) I141N probably damaging Het
Dnah1 C T 14: 30,998,115 (GRCm39) G2574D probably damaging Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Dock10 T C 1: 80,514,646 (GRCm39) R1424G probably damaging Het
Elp2 T C 18: 24,767,466 (GRCm39) I716T probably benign Het
Frk T C 10: 34,360,367 (GRCm39) probably null Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gin1 T A 1: 97,710,741 (GRCm39) S141R possibly damaging Het
Gm11596 G A 11: 99,683,770 (GRCm39) P117S unknown Het
Gm6327 T C 16: 12,579,061 (GRCm39) noncoding transcript Het
Hepacam2 A G 6: 3,476,121 (GRCm39) L268P probably damaging Het
Hps6 G A 19: 45,992,671 (GRCm39) V203M probably damaging Het
Hsd17b7 G A 1: 169,787,363 (GRCm39) probably benign Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Il1r2 T A 1: 40,162,309 (GRCm39) Y317* probably null Het
Ints8 C A 4: 11,246,097 (GRCm39) V190L probably benign Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Mecom A G 3: 30,034,560 (GRCm39) L372P probably benign Het
Mss51 T A 14: 20,534,756 (GRCm39) Q338L possibly damaging Het
Muc2 C T 7: 141,306,466 (GRCm39) T296I probably damaging Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nisch A G 14: 30,893,881 (GRCm39) Y1231H probably damaging Het
Or10ak14 A T 4: 118,611,732 (GRCm39) M1K probably null Het
Or10ak9 A G 4: 118,726,613 (GRCm39) I212V probably benign Het
Pcsk6 T C 7: 65,688,791 (GRCm39) V820A probably benign Het
Pdcd10 T C 3: 75,434,958 (GRCm39) K111R probably damaging Het
Pdgfrb T A 18: 61,201,924 (GRCm39) V496E probably benign Het
Pelo A T 13: 115,225,439 (GRCm39) C40* probably null Het
Plxnc1 C T 10: 94,685,683 (GRCm39) probably null Het
Ptpru G A 4: 131,530,698 (GRCm39) Q519* probably null Het
Pzp A G 6: 128,472,293 (GRCm39) probably benign Het
Rad21 A T 15: 51,828,426 (GRCm39) D547E probably benign Het
Serpina1d A T 12: 103,732,016 (GRCm39) L281Q probably damaging Het
Serpina9 T C 12: 103,967,729 (GRCm39) N222S probably benign Het
Sh3bgrl2 A G 9: 83,459,612 (GRCm39) K57E probably damaging Het
Shtn1 T C 19: 59,007,383 (GRCm39) E289G probably benign Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Slamf7 G A 1: 171,476,499 (GRCm39) probably benign Het
Sppl3 T A 5: 115,227,053 (GRCm39) probably benign Het
Suco G A 1: 161,681,379 (GRCm39) T253I probably benign Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tram2 T C 1: 21,074,468 (GRCm39) D238G probably damaging Het
Trpm3 T C 19: 22,964,237 (GRCm39) M1244T possibly damaging Het
Trub1 A G 19: 57,472,057 (GRCm39) T178A possibly damaging Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Vmn1r25 T A 6: 57,955,494 (GRCm39) Q265L probably damaging Het
Other mutations in Zfp821
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Zfp821 APN 8 110,436,110 (GRCm39) utr 5 prime probably benign
R0685:Zfp821 UTSW 8 110,451,174 (GRCm39) missense possibly damaging 0.87
R0879:Zfp821 UTSW 8 110,448,474 (GRCm39) missense possibly damaging 0.95
R1743:Zfp821 UTSW 8 110,450,796 (GRCm39) missense probably damaging 1.00
R1955:Zfp821 UTSW 8 110,447,874 (GRCm39) missense probably damaging 1.00
R2117:Zfp821 UTSW 8 110,447,851 (GRCm39) missense probably damaging 1.00
R2143:Zfp821 UTSW 8 110,450,979 (GRCm39) missense probably damaging 1.00
R2145:Zfp821 UTSW 8 110,450,979 (GRCm39) missense probably damaging 1.00
R2402:Zfp821 UTSW 8 110,447,872 (GRCm39) missense probably damaging 1.00
R2421:Zfp821 UTSW 8 110,436,165 (GRCm39) splice site probably null
R4906:Zfp821 UTSW 8 110,450,841 (GRCm39) missense probably damaging 1.00
R4907:Zfp821 UTSW 8 110,450,625 (GRCm39) missense probably benign 0.03
R5265:Zfp821 UTSW 8 110,450,991 (GRCm39) missense probably damaging 1.00
R7691:Zfp821 UTSW 8 110,447,871 (GRCm39) missense probably damaging 1.00
R9262:Zfp821 UTSW 8 110,450,982 (GRCm39) missense probably damaging 1.00
R9447:Zfp821 UTSW 8 110,450,816 (GRCm39) missense probably damaging 0.97
R9516:Zfp821 UTSW 8 110,447,856 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TACCCCAAGTCCACAGTGAAGGTC -3'
(R):5'- TAGCCTCTCGCTCTCGAATGAGTC -3'

Sequencing Primer
(F):5'- AAAGGACATTGCCTGTAGTCCTC -3'
(R):5'- GTTTCATTGGCCCGCTTCA -3'
Posted On 2013-04-16